Revel Score:
ENST00000380950 (MANE Select)
0.640
ENST00000325747
0.640
ENST00000399334
0.640
ENST00000541880
0.640
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48793359T>G , CM000677.2:g.48793359T>G | GRCh38 |
| NC_000015.9:g.49085556T>G , CM000677.1:g.49085556T>G | GRCh37 |
| NC_000015.8:g.46872848T>G | NCBI36 |
| NG_027518.1:g.22788A>C | |
| NG_027518.2:g.22788A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380950.7:c.794A>C MANE Select | ENSP00000370337.2:p.Gln265Pro | |
| ENST00000325747.9:c.515A>C | ENSP00000321000.5:p.Gln172Pro | |
| ENST00000380950.6:c.794A>C | ENSP00000370337.2:p.Gln265Pro | |
| ENST00000399334.7:c.794A>C | ENSP00000382271.3:p.Gln265Pro | |
| ENST00000560322.5:c.794A>C | ENSP00000453440.1:p.Gln265Pro | |
| NM_001194998.1:c.794A>C | NP_001181927.1:p.Gln265Pro | |
| NM_014985.3:c.794A>C | NP_055800.2:p.Gln265Pro | |
| XM_006720437.2:c.794A>C | XP_006720500.1:p.Gln265Pro | |
| XM_011521373.1:c.794A>C | XP_011519675.1:p.Gln265Pro | |
| XM_011521374.1:c.794A>C | XP_011519676.1:p.Gln265Pro | |
| XM_011521375.1:c.794A>C | XP_011519677.1:p.Gln265Pro | |
| XM_011521376.1:c.794A>C | XP_011519678.1:p.Gln265Pro | |
| XM_011521377.1:c.794A>C | XP_011519679.1:p.Gln265Pro | |
| XM_011521378.1:c.794A>C | XP_011519680.1:p.Gln265Pro | |
| XM_011521379.1:c.794A>C | XP_011519681.1:p.Gln265Pro | |
| XR_931769.1:n.1759A>C | ||
| XR_931770.1:n.1759A>C | ||
| XR_931771.1:n.1759A>C | ||
| XR_931772.1:n.1759A>C | ||
| XR_931773.1:n.1759A>C | ||
| XR_931774.1:n.1759A>C | ||
| XR_931775.1:n.1759A>C | ||
| XM_006720437.3:c.794A>C | XP_006720500.1:p.Gln265Pro | |
| XM_011521373.3:c.794A>C | XP_011519675.1:p.Gln265Pro | |
| XM_011521374.3:c.794A>C | XP_011519676.1:p.Gln265Pro | |
| XM_011521375.3:c.794A>C | XP_011519677.1:p.Gln265Pro | |
| XM_011521378.3:c.794A>C | XP_011519680.1:p.Gln265Pro | |
| XM_011521379.3:c.794A>C | XP_011519681.1:p.Gln265Pro | |
| XM_017022016.2:c.794A>C | XP_016877505.1:p.Gln265Pro | |
| XM_024449875.1:c.794A>C | XP_024305643.1:p.Gln265Pro | |
| XR_001751153.2:n.1745A>C | ||
| XR_931769.3:n.1745A>C | ||
| XR_931770.3:n.1745A>C | ||
| XR_931775.3:n.1745A>C | ||
| NM_001194998.2:c.794A>C MANE Select | NP_001181927.1:p.Gln265Pro | |
| NM_014985.4:c.794A>C | NP_055800.2:p.Gln265Pro |